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Variant : CV36176 (NM_005359.5(SMAD4):c.1088_1090delGTT (p.Cys363del)) Homo sapiens

Symbol: CV36176
Name: NM_005359.5(SMAD4):c.1088_1090delGTT (p.Cys363del)
Condition: Jp/hht [RCV000021715]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021715]
Clinical Significance: pathogenic
Last Evaluated: 12/04/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SMAD4  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: inframe_variant
Evidence: clinical testing
HGVS Name(s): NP_005350.1:p.Cys363del
LRG_318p1:p.Cys363del
NC_000018.10:g.51065555_51065557del
NC_000018.9:g.48591925_48591927del
NM_005359.5:c.1088_1090del
LRG_318t1:c.1088_1090del
LRG_318:g.102516_102518del
NG_013013.2:g.102516_102518del
NM_005359.5:c.1088_1090delGTT
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,555 - 51,065,557CLINVAR
GRCh371848,591,925 - 48,591,927CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
Age Of Onset: adolescent|infancy|variable
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8567634
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.